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The long‐term evolution of a case of 3‐hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa
Author(s) -
Jones K. J.,
Wilcken B.,
Kilham H.
Publication year - 1997
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005388205719
Subject(s) - retinitis pigmentosa , medical genetics , general hospital , medicine , pediatrics , genetics , ophthalmology , biology , retinal , gene